Pages that link to "Q72220530"

The following pages link to Adult presentation of adenosine deaminase deficiency (Q72220530):

Displaying 23 items.

• Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles (Q24539210) (← links)
• Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction (Q28511939) (← links)
• Severe combined immunodeficiencies (SCID) (Q29042256) (← links)
• Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency (Q33655302) (← links)
• Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery (Q35889300) (← links)
• Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. (Q35889409) (← links)
• Warts and all: human papillomavirus in primary immunodeficiencies (Q36455030) (← links)
• Unravelling the association of partial T-cell immunodeficiency and immune dysregulation (Q37190443) (← links)
• Adenosine deaminase deficiency: molecular basis and recent developments (Q40411058) (← links)
• Diagnosis and Treatment of Inborn Errors of Purine and Pyrimidine Metabolism: An Overview (Q40474529) (← links)
• When and how does one search for inborn errors of purine and pyrimidine metabolism? (Q40672685) (← links)
• Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency (Q41521392) (← links)
• When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications (Q41521428) (← links)
• Late-onset adenosine deaminase deficiency presenting with Heck's disease (Q43206034) (← links)
• Primary immunodeficiencies. Clinical features and variant forms (Q43659936) (← links)
• Biochemical and Immunological Status Following Gene Therapy and PEG-ADA Therapy for Adenosine Deaminase (ADA) Deficiency (Q45868264) (← links)
• Adenosine deaminase deficiency: a review. (Q54229015) (← links)
• Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies (Q58610783) (← links)
• Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency (Q71167703) (← links)
• Purine enzyme activities in peripheral blood mononuclear cells: comparison of a new non-radiochemical high-performance liquid chromatography procedure and a radiochemical thin-layer chromatography procedure (Q72011520) (← links)
• Adenosine Deaminase (ADA) Deficiency as the Unexpected Cause of CD4+ T-Lymphocytopenia in Two HIV-Negative Adult Female Siblings (Q72025682) (← links)
• Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency (Q72687095) (← links)
• Determination of adenosine deaminase activity in human erythrocytes by on-column capillary isotachophoresis-capillary zone electrophoresis in the presence of electroosmotic flow (Q77366154) (← links)